Ruptured Spleen in Factor XIII Deficiency

Full Length Research Paper

Ruptured spleen in factor XIII deficiency

Kakil Ibrahim Rasul*, Mohamed Sadiq Ahmed and Abdul-Rahman Zar Gul

Hamad Medical Corporation, Al-Amal Hospital, P.O. Box 3050, Doha, Qatar.

Accepted 23 September, 2009

Factor XIII deficiency is a rare bleeding disorder, and spontaneous spleen rapture is not reported in cases of this disorder. We report 2 cases of spontaneous ruptured spleen in 2 young Pakistani boys who were known factor XIII deficiency who were presented at the same time within 24 h. Both cases were recovered and one was successfully treated conservatively while the other treated surgically by spleenectomy. It should also remind physicians that bleeding disorders may have unusual presentations and should keep in mind ruptured spleen in the differential diagnosis of patient with factor XIII deficiency presenting with acute abdomen. The treatment is either surgery or conservatively depending on the progress of the bleeding.

Key words: Factor XIII deficiency, ruptured spleen, bleeding diathesis.

INTODUCTION

Congenital factor XIII (FXIII) deficiency is a rare autoso- plasma XIII is long, and low plasma levels are sufficient mal recessive disease usually associated with a severe for haemostasis (Anwar et al., 2002). bleeding diathesis. The incidence is about 1 case per 2 - 5 million populations. The male-to-female ratio is 1:1. FXIII is a plasma transglutaminase that catalyzes the final Case 1 step in the coagulation cascade, cross-linking the loose fibrin polymer into a highly organized structure. In A.S is a 19-year-old patient presented in May, 2007 to addition, FXIII covalently binds fibronectin, 2-plasmin in- A&E with severe abdominal pain, started all of a sudden hibitor, and other molecules to the fibrin plug; this en- at home when he was inside bathroom, the pain was hances adherence to the wound site, resistance to fi- agonizing, increasing in intensity, without history of neith- brinolysis, and wound healing. Deficiency of factor XIII er constipation nor diarrhea, involving the whole abdo- results in bleeding diasthesis. Physical manifestations men but mainly left hypochondia associated with difficulty related to bleeding may include the following: Persistent of breathing and the patient was anxious. Also, he repor- bleeding from the stump of the umbilical cord, soft tissue ted left side basal pleuritic chest pain. He was denying hi- bleeding, neurologic findings commensurate with central story of trauma. Urgent CT scan of the abdomen (Figure nervous system hemorrhage, bleeding in the oral cavity, 1) showed subcapsular splenic tear and hematoma with hemarthroses or periarticular bleeding, poor wound hea- intraabdominal collection, which was hemorrhagic. The ling The principal sites of bleeding are intracranial, um- patient was admitted to medical intensive care unit, bilical cord, superficial bruising and hematoma forma- managed conservatively by fresh frozen plas-ma (FFP) tion, oral cavity (Ernest Beutler et al.,1994). Diagnosis is and tranexamic acid. No surgical intervention done. CT made by normal coagulation screening tests and a de- angio showed no bleeding but capillary blee-ding which is tailed family history. Specific factor XIII assays can not feasible for arterial embolization. The patient received confirm the diagnosis. The condition can also be defined 10 - 20 ml/kg FFP q12H for first 5 days and also he was by a clot solubility test. Because of the severity of the transfused 5 units PRBC. After five days from his bleeding diathesis, prophylaxis is desirable and has been admission, his hemoglobin became stable around 10 shown to be very effective as the in vivo half-life of g/dL, FFP stopped and maintained on ferrous sulfate treatment, because of shortness of breath and ta- chypnea and chest pain, he was kept on IV Tazobactam and Piperacillin (Tazocin) on assumption of chest infec- *Corresponding author. E-mail [email protected]. Fax +974 tion by chest x-ray. Five days later, he had oxygen 4397857 desaturation for which spiral CT chest showed suspicious Rasul et al. 009

Figure 1. Case number 1, CT scan abdomen for case number 1 showing the ruptured spleen.

small pulmonary embolism in one of the left basal pulmo- the large joints like elbows, hips, and knees. In one nary arteriole. But the patient was not started on any admission in 2005, he had intra-abdominal bleeding with treatment especially he was feeling much better, without abdominal hematoma and one of other severe episodes; pain, and no more shortness of breath. he had huge hemiarthrosis of the knee joint. During all He had been diagnosed as factor XIII deficiency, pre- these episodes, he was managed by fresh frozen plasma sented at 1-month-old with hematoma post vaccination 10 - 20 ml/kg /day for two to three days in addition to IV and with later post circumcision bleeding then followed at or oral tranexamic acid 1 gm 8 hourly and given ferrous Pediatric Hematology out patient department for frequent sulfate for his constantly low hemoglobin 100 - 120 g/L. intra-articular and paraarticular soft tissue bleeding even After the incident of knee joint hemiarthrosis early 2006 after trivial trauma. Then after the age of 14, his care and at age of 18 years old, the patient was started on transferred to us as Adult Hematology Team. The patient fresh frozen plasma prophylaxis 5 ml/kg every two to continued to have same type of bleeding mainly involving three weeks and for about one year, his condition was 010 J. Med. Genet. Genomics

Figure 2. CT scan of abdomen for case number 2, showing the ruptured spleen.

very well without bleeding. His hemoglobin was trending Case 2 to be more than 120 g/L but over the last two months, he stopped receiving FFP prophylaxis. F.M.B a 17 years old Pakistani male patient had been diagnosed as factor XIII deficiency at age of 2 years when Social history: Nonsmoker nonalcoholic low to medium he developed bleeding after circumcision, he had history social class. Finished his secondary school two years of repeated hematomas in the thigh, lips and bleeding ago and he is not employed. Not athletic. after tooth extraction, presented on 3rd of June, 2007 presented to the emergency department with sudden onset Family history: The patient’s father has no chronic severe abdominal pain of few hours duration, an urgent illness. No bleeding tendencies. The mother has no CT scan of the abdomen (Figure 2) revealed raptured sp- bleeding tendency but history of migraine and convulsing leen, patient received 2 unit PRBC and 5 units of FFP disorder. The patient has two little brothers. The youngest and underwent splenectomy, continued FFP after surgery has factor XIII deficiency and the other has no bleeding until stablised. Post operatively patient developed short- tendency so far and three sisters one older than the ness of breath and fever CXR showed bilateral infiltration, patient and 2 younger, none had bleeding tendency and patient started on antibiotic and had smooth recovery. screening test for factor XIII deficiency were negative. In family history, his parents are first degree cousin he Rasul et al. 011

had 2 sisters one of them diagnosed factor XIII deficiency REFERENCES and he had 3 brothers one died at age of 6 years from *Ernest B, Marshall L, Barry C, Thomas Ki, (1994). Hereditary and unknown reason. acquired deficiencies of activated factor XIII – William’s Hematology, 5th ed. McGraw Hill Inc. New York, 5th ed. pp. 1455-1457. Anwar R, Minford A, Gallivan L, Trinh CH, Markham AF (2002). Delayed DISCUSSION umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management. Pediatrics 109. Waks D, Arnout J, Demulder A, Ferster A, Fondu P (1989). Inherited Factor XIII (FXIII) deficiency is a rare inherited disease factor XIII deficiency, Acta Clin. Belg. 44 (1):52-57. usually associated with a severe bleeding diathesis, with Anwar R, Miloszewski KJ. Br J Haematol. (1999). Factor XIII deficiency. very low incidence which is about 1 case per 2 - 5 million Br J. Haematol. 107: 468–84. Shaikh AN, Khurshid M.(1993) Apr J Pak Med Assoc. ; 43 (4):67-9. populations and equal incidence in both male in female. Board PG, Losowsky MS, Miloszewski KJ (1993 Dec), Factor XIII: Signs of bleeding include the following: CNS hemorrhage inherited and acquired deficiency. Blood Rev. 7 (4): 229-242. is frequent (25 - 30%) and may occur spontaneously or after minor trauma. Prevention of this complication is the major rationale for initiating prophylactic therapy. Infants are at risk of bleeding immediately after birth; the greatest risk is due to CNS hemorrhage. Soft tissue bleeding and bruising are very common, as is bleeding into the mouth and gums during teething. Hemarthroses occur in 20% of cases; however, incidence is less frequent than in severe hemophilia. Bleeding that is delayed (that is 12 - 36 h) after trauma or surgery is pathognomonic of FXIII deficiency. Recurrent spontaneous abortions are very common in women with FXIII deficiencies who do not receive FXIII replacement. Wound healing is abnormal in a small number of patients; therefore, FXIII may have a role in tissue repair (Waks et al., 1989; Anwar et al., 1999; Shaikh and Khurshid, 1993). We report 2 cases presented with spontaneously ruptured spleen in 2 young male Pakistani patients with in 24 h. There is high incidence of consanguinity was observed in affected families of factor XIII deficiency among Pakistanis (Board et al., 1993). It know that rupture of solid organ as liver , spleen kidney can occur after trauma but in a search of the Medline the occurrence of spontaneous rapture of spleen is not reported in the literatures.

Conclusion

Factor XIII deficiency is a rare bleeding disorder cha- racterized by variable bleeding manifestations but consis- tent laboratory findings. We have reported an unusual clinical presentation in 2 patients with FXIII deficiency, which is ruptured spleen the treatment depended on the individual patient's situation whether to go for conser- vative line or surgical interference depending on the progressing of the bleeding needed awareness.